Using XIST RNA to silence the extra chromosome in Down Syndrome
Translational Epigenetics with XIST: Silencing Trisomy in Human Organoid and Mouse Models of Down Syndrome
This study is looking at how a special RNA called XIST might help turn off the extra chromosome that causes Down Syndrome, with the goal of finding a new treatment to improve the lives of those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project ID | NIH-10438826 on NIH RePORTER |
What this research studies
This research explores the potential of XIST RNA to silence the extra chromosome responsible for Down Syndrome, aiming to develop a therapeutic strategy. The team is investigating how manipulating XIST can lead to stable epigenetic changes that may reverse or mitigate the effects of trisomy 21. By using both human organoid and mouse models, they hope to demonstrate the effectiveness of this approach in addressing the genetic imbalances associated with Down Syndrome. The research builds on promising preliminary results showing that XIST can induce significant changes in gene expression.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with Down Syndrome, particularly those affected by the associated cognitive and developmental challenges.
Not a fit: Patients without Down Syndrome or those with other genetic conditions unrelated to trisomy 21 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to groundbreaking treatments that significantly improve the quality of life for individuals with Down Syndrome.
How similar studies have performed: While the concept of using XIST for chromosomal silencing is innovative, preliminary studies have shown promising results, indicating potential for success in this area.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Lawrence, Jeanne Bentley — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Lawrence, Jeanne Bentley
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.